ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=)

gnomAD frequency: 0.00306  dbSNP: rs35579821
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250103 SCV000304158 benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000250103 SCV000339390 benign not specified 2016-02-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304257 SCV000460038 likely benign Congenital muscular dystrophy due to partial LAMA2 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000554229 SCV000528877 benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000250103 SCV000595503 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085004 SCV000658696 benign LAMA2-related muscular dystrophy 2025-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000554229 SCV001144408 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000554229 SCV004160291 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing LAMA2: BP4, BP7

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